About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tmc1tm1.1Ajg
targeted mutation 1.1, Andrew J Griffith
MGI:5427097
Summary 4 genotypes


Genotype
MGI:5427100
hm1
Allelic
Composition		 Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic
Background		 B6.129-Tmc1tm1.1Ajg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc1tm1.1Ajg mutation (1 available); any Tmc1 mutation (59 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal hair cell mechanoelectric transduction ( J:184419 )
• significant reduction in current amplitude in outer hair cells from the apical cochlea at P5-P7 but not in cells from the basal turns at P2-P4
increased or absent threshold for auditory brainstem response ( J:184419 )
• increased ABR threshold at all frequencies tested
deafness ( J:184419 )
• profound

behavior/neurological
behavior/neurological phenotype ( J:184419 )
N
• normal motor behavior

nervous system
abnormal hair cell mechanoelectric transduction ( J:184419 )
• significant reduction in current amplitude in outer hair cells from the apical cochlea at P5-P7 but not in cells from the basal turns at P2-P4




Genotype
MGI:5427102
cx2
Allelic
Composition		 Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic
Background		 B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc1tm1.1Ajg mutation (1 available); any Tmc1 mutation (59 available)
Tmc2tm1.1Ajg mutation (1 available); any Tmc2 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal vestibuloocular dark reflex ( J:184419 )
• negligible acceleration gain values at 2-3 months of age during high-acceleration, whole-body rotations in darkness
cochlear inner hair cell degeneration ( J:184419 )
• first detected at approximately P9
cochlear outer hair cell degeneration ( J:184419 )
• first detected at P5 and P7 in the basal and apical cochlear turns, respectively
abnormal hair cell physiology ( J:184419 )
• utricle hair cells lack detectable FM1-43 uptake indicting severely impaired mechanotransduction channel activity
• utricle hair cell bundles are resistant to gentamicin induced toxicity due to impaired uptake of gentamicin
abnormal cochlear hair cell physiology ( J:184419 )
• hair cells lack detectable FM1-43 uptake indicting severely impaired mechanotransduction channel activity
• hair cell bundles are resistant to gentamicin induced toxicity due to impaired uptake of gentamicin
abnormal hair cell mechanoelectric transduction ( J:184419 )
• basal outer hair cells lack mechanotransduction currents
• however, tip-links appear to be intact
increased or absent threshold for auditory brainstem response ( J:184419 )
• increased ABR threshold at all frequencies tested
deafness ( J:184419 )
• profound

behavior/neurological
impaired righting response ( J:184419 )
• early postnatal pups lack the ability to right from a supine position
abnormal vestibuloocular dark reflex ( J:184419 )
• negligible acceleration gain values at 2-3 months of age during high-acceleration, whole-body rotations in darkness
ataxia ( J:184419 )
• ataxic gait
head bobbing ( J:184419 )
• bobbing and arching

nervous system
cochlear inner hair cell degeneration ( J:184419 )
• first detected at approximately P9
cochlear outer hair cell degeneration ( J:184419 )
• first detected at P5 and P7 in the basal and apical cochlear turns, respectively
abnormal hair cell physiology ( J:184419 )
• utricle hair cells lack detectable FM1-43 uptake indicting severely impaired mechanotransduction channel activity
• utricle hair cell bundles are resistant to gentamicin induced toxicity due to impaired uptake of gentamicin
abnormal cochlear hair cell physiology ( J:184419 )
• hair cells lack detectable FM1-43 uptake indicting severely impaired mechanotransduction channel activity
• hair cell bundles are resistant to gentamicin induced toxicity due to impaired uptake of gentamicin
abnormal hair cell mechanoelectric transduction ( J:184419 )
• basal outer hair cells lack mechanotransduction currents
• however, tip-links appear to be intact




Genotype
MGI:5427103
cx3
Allelic
Composition		 Tmc1tm1.1Ajg/Tmc1+
Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic
Background		 B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc1tm1.1Ajg mutation (1 available); any Tmc1 mutation (59 available)
Tmc2tm1.1Ajg mutation (1 available); any Tmc2 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
abnormal vestibuloocular dark reflex ( J:184419 )
• reduced acceleration gain values at 2-3 months of age compared to wild-type controls but increased compared to double homozygous mice

hearing/vestibular/ear
abnormal vestibuloocular dark reflex ( J:184419 )
• reduced acceleration gain values at 2-3 months of age compared to wild-type controls but increased compared to double homozygous mice




Genotype
MGI:5427104
cx4
Allelic
Composition		 Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Tmc2tm1.1Ajg/Tmc2+
Genetic
Background		 B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc1tm1.1Ajg mutation (1 available); any Tmc1 mutation (59 available)
Tmc2tm1.1Ajg mutation (1 available); any Tmc2 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal hair cell mechanoelectric transduction ( J:184419 )
• significant reduction in transduction current amplitudes in outer hair cells from the P2-P4 basal cochlea

nervous system
abnormal hair cell mechanoelectric transduction ( J:184419 )
• significant reduction in transduction current amplitudes in outer hair cells from the P2-P4 basal cochlea




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory